Accepted for Publication: November 17, 2010.
Author Contributions:Study concept and design: Biancheri, Zara, and Wolf. Acquisition of data: Zara, Mathot, Nassogne, Yalcinkaya, Erturk, Tuysuz, Bugiani, Sistermans, Minetti, van der Knaap, and Wolf. Analysis and interpretation of data: Zara, Rossi, Di Rocco, Gazzerro, Bugiani, van Spaendonk, van der Knaap, and Wolf. Drafting of the manuscript: Biancheri, Zara, Nassogne, Erturk, Tuysuz, Bugiani, and Wolf. Critical revision of the manuscript for important intellectual content: Zara, Rossi, Mathot, Yalcinkaya, Di Rocco, Gazzerro, van Spaendonk, Sistermans, Minetti, van der Knaap, and Wolf. Obtained funding: Zara. Administrative, technical, and material support: Zara, Mathot, Erturk, Tuysuz, Gazzerro, Bugiani, Sistermans, and Wolf. Study supervision: Biancheri, Zara, Nassogne, Yalcinkaya, Minetti, and Wolf.
Financial Disclosure: None reported.
Funding/Support: Some samples were obtained from the Cell Line and DNA Bank From Patients Affected by Genetic Diseases collection (http://dppm.gaslini.org/biobank/), which is supported by the Italian Telethon. This study was supported in part by grant GP2007250 from the Italian Telethon, funding from the Mariani Foundation and the San Paolo Foundation, and grant 2009-032I4 from the ELA Foundation.
Additional Contributions: Wouter Kamphorst, MD, assisted with the histopathologic and ultrastructural analysis.